Varaico: Literature-Extracted Genetic Variants

FAT4

534 papers

RefSeq Summary

The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cau...

Pfam Domains

Cadherin_FAT4_Naa 43–127UCSCFAT4-like, N-terminal cadherin-like domain

Cadherinaa 140–241UCSCCadherin domain

Cadherinaa 255–344UCSCCadherin domain

Cadherinaa 363–466UCSCCadherin domain

Cadherinaa 480–573UCSCCadherin domain

Cadherinaa 588–680UCSCCadherin domain

Gene Aliases

HGNC Name

FAT atypical cadherin 4

HGNC Alias Symbols

CDHF14; FAT-J; CDHR11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001291303.3

p.E3163*

c.9487G>T

NM_024582.6

p.E3161*

c.9481G>T

Surrounding Variants

1 paper

NM_001291303.3

p.H3162H

c.9486C>T

1 paper

NM_001291303.3

p.L3158L

c.9474A>T

1 paper

NM_001291303.3

p.G3172_V3174delFs

c.9514_9521del8

1 paper

NM_001291303.3

p.G3172fs

c.9514_9515fs

3 papers

NM_001291303.3

p.A3151T

c.9451G>A

1 paper

NM_001291303.3

p.V3182E

c.9545T>A

1 paper

NM_001291303.3

p.V3184I

c.9550G>A

1 paper

NM_001291303.3

p.V3186M

c.9556G>A

1 paper

NM_024582.6

p.V3193I

c.9577G>A

1 paper

NM_001291303.3

p.S3129fs

c.9385_9386fs

1 paper

NM_001291303.3

p.D3199E

c.9597T>A

1 paper

NM_001291303.3

p.D3199E

c.9597T>G